likelihood of identifying reproducible genetic associations using
prior knowledge from publicly available databases and expert
-information [#Armstrong2008:function2gene]. Using these methods, I was
+information [^Armstrong2008:function2gene]. Using these methods, I was
able to identify genes previously unassociated with SLE in a
-trio-based study [#Jacob2007:ar_lupus]. These genes were then
+trio-based study [^Jacob2007:ar_lupus]. These genes were then
replicated in a larger case-control study which was funded by the NIH
-on the basis of the original findings [#Jacob2009:sle_irak1] ,
-[#Armstrong2009:sle_gi]. Among other findings, this larger study
+on the basis of the original findings [^Jacob2009:sle_irak1],[^Armstrong2009:sle_gi].
+Among other findings, this larger study
identified a missense allele in NCF2 (H389Q, rs17849502) which was
associated with SLE. Collaborative work indicated that H389Q altered
the binding energy of NCF2 with VAV1 using docking simulations, and in
vitro experiments confirmed that H389Q altered NADPH oxidase function
-[#Jacob2012:sle_ncf2], thus identifying it as a causative SLE
+[^Jacob2012:sle_ncf2], thus identifying it as a causative SLE
mutation.
## Cancer Stem Cells in Glioblastoma
including the Id1/Thsb1 inhibitory pathway. Additional experiments
indicated that the *in vitro* pathology of endothelial cells could be
partially rescued using extracellular Thsb1
-[#Stapleton2011:thbs1].
+[^Stapleton2011:thbs1].
# Future research directions
reinvent them.
-[#Armstrong2009:sle_gi]: D L Armstrong et al. “Identification of new SLE-associated genes with a two-step
+[^Armstrong2009:sle_gi]: D L Armstrong et al. “Identification of new SLE-associated genes with a two-step
Bayesian study design”. In: Genes Immun. 10.5 (July 2009), pp. 446–456. doi:
[10.1038/gene.2009.38](http://dx.doi.org/10.1038/gene.2009.38).
-[#Armstrong2008:function2gene]: Don L Armstrong, Chaim O Jacob, and Raphael Zidovetzki. “Function2Gene: a
+[^Armstrong2008:function2gene]: Don L Armstrong, Chaim O Jacob, and Raphael Zidovetzki. “Function2Gene: a
gene selection tool to increase the power of genetic association studies by utilizing
public databases and expert knowledge”. In: BMC Bioinformatics 9 (2008), p. 311.
doi: [10.1186/1471-2105-9-311](http://dx.doi.org/10.1186/1471-2105-9-311).
-[#Jacob2009:sle_irak1]: Chaim O Jacob et al. “Identification of IRAK1 as a risk gene with critical role
+[^Jacob2009:sle_irak1]: Chaim O Jacob et al. “Identification of IRAK1 as a risk gene with critical role
in the pathogenesis of systemic lupus erythematosus”. In: Proc. Natl. Acad. Sci.
U.S.A. 106.15 (Apr. 2009), pp. 6256–6261. doi: [10.1073/pnas.0901181106](http://dx.doi.org/10.1073/pnas.0901181106).
-[#Jacob2007:ar_lupus]: Chaim O Jacob et al. “Identification of novel susceptibility genes in childhood-
+[^Jacob2007:ar_lupus]: Chaim O Jacob et al. “Identification of novel susceptibility genes in childhood-
onset systemic lupus erythematosus using a uniquely designed candidate gene
pathway platform”. In: Arthritis Rheum. 56.12 (Dec. 2007), pp. 4164–4173. doi:
[10.1002/art.23060](http://dx.doi.org/10.1002/art.23060).
-[#Jacob2012:sle_ncf2]: Chaim O Jacob et al. “Lupus-associated causal mutation in neutrophil cytosolic
+[^Jacob2012:sle_ncf2]: Chaim O Jacob et al. “Lupus-associated causal mutation in neutrophil cytosolic
factor 2 (NCF2) brings unique insights to the structure and function of NADPH
oxidase”. In: Proc. Natl. Acad. Sci. U.S.A. 109.2 (Jan. 2012), pp. 59–67. doi:
[10.1073/pnas.1113251108](http://dx.doi.org/10.1073/pnas.1113251108).
-[#Stapleton2011:thbs1]: Christopher J Stapleton et al.
+[^Stapleton2011:thbs1]: Christopher J Stapleton et al.
“Thrombospondin-1 modulates the angiogenic phe- notype of human
cerebral arteriovenous malformation endothelial cells”. In:
Neurosurgery 68.5 (May 2011), pp. 1342–1353.
doi: [10.1227/NEU.0b013e31820c0a68](http://dx.doi.org/10.1227/NEU.0b013e31820c0a68).
-[survival_rate]: Only 4% of patients survive to 5 years after diagnosis
+[^survival_rate]: Only 4% of patients survive to 5 years after diagnosis
-[avm_definition]: Direct artery to vein connection without an
+[^avm_definition]: Direct artery to vein connection without an
intervening capilary bed; leads to high pressure arterial flow in
venous tissue and can lead to hemmorrhage and death.
-[extending_note]: and extending existing open source tools where they
+[^extending_note]: and extending existing open source tools where they
exist